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Reviewing the application of the civil penalty privilege to death in custody inquests

Theorises the application of Habeas Corpus to release prisoners at risk of Covid-19

Analysis of the judgment of the Court of Appeal in Attorney General v XX [2018] NSWCCA 198 and its implications for practitioners briefed in attempts to retry accused under the double jeopardy provisions of the Crimes (Appeal and Review) Act 2006.

There is a growing pool of research on court outcomes in sentencing Indigenous people but relatively little research on the information available to sentencing courts to consider Indigenous background. Although Australian courts mostly have discretion to consider Indigenous circumstances, such consideration depends on submissions and reports tendered in court. The High Court in Bugmy v The Queen (2013) stated “it is necessary to point to material tending to establish [the defendant’s deprived] background” if it is to be relevant in sentencing.1 The main repository of court information on defendant background is counsel submissions and, where the defendant is facing imprisonment, Community Corrections’ Presentence Reports. Based on 18 interviews with judicial officers, lawyers and court staff in New South Wales and Victoria, this article identifies the need for more information on relevant Indigenous background factors in sentencing. The introduction of discrete Indigenous community reports that present Indigenous perspectives on the person’s background and rehabilitation was regarded as important for addressing the Bugmy requirement. This article makes reference to the wide-scale experience in Canada of First Nations presentence reports, known as “Gladue Reports”, and the more small-scale Australian experiences of Indigenous cultural reports, to indicate how this material can enhance individualised justice in sentencing Indigenous peoples.

Children with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,294 families with children with DDs, and meta-analysed these data with published data on 3,287 children with similar disorders. We show that the most significant factors influencing the diagnostic yield of de novo mutations are the sex of the child, the relatedness of their parents and the age of both father and mother. We identified 95 genes enriched for damaging de novo mutation at genome-wide significance (P < 5 x 10-7), including fourteen genes for which compelling data for causation was previously lacking. The large number of genome-wide significant findings allow us to demonstrate that, at current cost differentials, exome sequencing has much greater power than genome sequencing for novel gene discovery in genetically heterogeneous disorders. We estimate that 42.5% of our cohort likely carry pathogenic de novo single nucleotide variants (SNVs) and indels in coding sequences, with approximately half operating by a loss-of-function mechanism, and the remainder being gain-of-function. We established that most haploinsufficient developmental disorders have already been identified, but that many gain-of-function disorders remain to be discovered. Extrapolating from the DDD cohort to the general population, we estimate that de novo dominant developmental disorders have an average birth prevalence of 1 in 168 to 1 in 377, depending on parental age.

Hereditary inclusion body myopathy (IBM) with Paget's disease of the bone (PDB) and frontotemporal dementia (FTD) (IBMPFD) is a rare autosomal dominant disorder due to mutations in the valosin-containing protein gene ( VCP ).1 Pathogenic VCP variants have also been associated with amyotrophic lateral sclerosis2 and other phenotypes including dilated cardiomyopathy and Parkinson's disease. We describe phenotypic and genetic findings of 42 individuals from 21 families with VCP mutations. As our service is the reference laboratory for the UK, we calculated the UK's point prevalence based on the 2011 Census as the number of cases per population. In total, 42 individuals were identified, 23 men and 19 women from 21 kinships (see online supplementary tables S1A, B). Based on our data, the expected point prevalence of IBMPFD in the UK is 0.066/100 000 population. Eighteen unrelated patients harbour a previously described mutation. In addition, three patients from two families harbour two novel variants (c.604G>T, p.G202W in exon 6 and c.1316C>G, p.A439G in exon 11) that are predicted to be pathogenic by in silico analysis (Alamut interpretation software V.2.4) and segregate with disease. Three previously described mutations were identified in exon 5 of the VCP gene. The mutation p.R155H (c.464G>A) was found in 11 families. The mutation p.R191Q (c.572G>A) was found in three unrelated patients, p.R155C (c.463C>T) in two families, and p.R93C (c.277C>T) in two unrelated patients (see online supplementary material genetic analysis and mutation analysis). The mean age of disease onset was …